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Volumn 56, Issue 1, 1999, Pages 100-102

Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSYLCERAMIDASE;

EID: 0032840829     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.1999.560117.x     Document Type: Article
Times cited : (11)

References (12)
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    • (1994) , pp. 2641-2670
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  • 2
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    • Use of denaturing gradient gel electrophoresis to identify mutant sequences in the β‐glucocerebrosidase gene
    • 2 Laubscher KH, Glew RH, Lee RE, Okinaka RT. Use of denaturing gradient gel electrophoresis to identify mutant sequences in the β‐glucocerebrosidase gene. Hum Mutat 1994: 3: 411 415.
    • (1994) Hum Mutat , vol.3 , pp. 411-415
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  • 3
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    • Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese
    • 3 Amaral O, Pinto E, Fortuna M, Lacerda L, Sá Miranda MC. Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese. Hum Mutat 1996: 8: 280 281.
    • (1996) Hum Mutat , vol.8 , pp. 280-281
    • Amaral, O1    Pinto, E2    Fortuna, M3    Lacerda, L4    Sá Miranda, MC5
  • 4
    • 0027435405 scopus 로고
    • Identification of Gaucher disease carriers: glucocerebrosidase antigen and DNA analysis
    • 4 Lacerda L, Amaral O, Pinto R, Aerts J, Sá Miranda MC. Identification of Gaucher disease carriers: glucocerebrosidase antigen and DNA analysis. Biochem Med Metab Biol 1993: 50: 190 196.
    • (1993) Biochem Med Metab Biol , vol.50 , pp. 190-196
    • Lacerda, L1    Amaral, O2    Pinto, R3    Aerts, J4    Sá Miranda, MC5
  • 6
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    • Type I Gaucher disease: molecular biochemical and clinical characterization of patients from northern Portugal
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    • (1993) Biochem Med Metab Biol , vol.49 , pp. 97-107
    • Amaral, O1    Lacerda, L2    Santos, R3    Pinto, RA4    Aerts, H5    Sá Miranda, MC6
  • 7
    • 25044438024 scopus 로고    scopus 로고
    • Mutation analysis of the three most common lysosomal storage disorders in Portugal
    • 7 Amaral O, Marcão M, Pinto E, Sá Miranda M. Mutation analysis of the three most common lysosomal storage disorders in Portugal. Eur J Hum Genet 1998: 6 (50): P1.027.
    • (1998) Eur J Hum Genet , vol.6 , Issue.50 , pp. P1.027
    • Amaral, O1    Marcão, M2    Pinto, E3    Sá Miranda, M4
  • 9
    • 0032231639 scopus 로고    scopus 로고
    • Exhaustive screening of the acid β‐glucosidase gene by fluorescence‐assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlation's in Gaucher disease
    • 9 Germain DP, Puech JP, Caillaud C, Kahn A, Poenaru L. Exhaustive screening of the acid β‐glucosidase gene by fluorescence‐assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlation's in Gaucher disease. Am J Hum Genet 1998: 63: 415 427.
    • (1998) Am J Hum Genet , vol.63 , pp. 415-427
    • Germain, DP1    Puech, JP2    Caillaud, C3    Kahn, A4    Poenaru, L5
  • 10
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    • Prediction of severity of Gaucher's disease by identification of mutations at DNA level
    • 10 Zimran A, Sorge J, Gross E, Kubitz M, West C, Beutler E. Prediction of severity of Gaucher's disease by identification of mutations at DNA level. Lancet 1989: 2: 349 352.
    • (1989) Lancet , vol.2 , pp. 349-352
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  • 11
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    • Activity of glucocerebrosidase in extracts of different cell types from type 1 Gaucher disease patients
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    • Sá Miranda, MC1    Aerts, J2    Pinto, R3    Fontes, A4    Lacerda, L5    Van Weely, S6    Barranger, J7    Tager, JM8
  • 12
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    • Marked elevation of plasma chitotriosidase activity
    • 12 Hollack C, Van Weely S, Van Oers M, Aerts J. Marked elevation of plasma chitotriosidase activity. J Clin Invest 1994: 93: 1288 1292.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.